Unexplained kidney failure in young people
Gene: ALMS1
ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
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Details
- Sources
-
- Eligibility statement prior genetic testing
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Insulin resistance (including lipodystrophy)
- Limb disorders
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Severe early-onset obesity
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Bardet Biedl syndrome
- Unexplained kidney failure in young people
- Monogenic diabetes
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
History Filter Activity
17 Aug 2016, Gel status: 0
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)ALMS1 was added to Unexplained kidney failure in young peoplepanel. Sources: Eligibility statement prior genetic testing
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ALMS1 was created by sleigh